Like many young couples, Luke and Kjirstyn Welch just want to start a family. After the tragic death of their first two children from a rare disease called surfactant deficiency, which is caused by a genetic disorder, tests revealed that both young parents carry a genetic mutation of the ABCA3 gene. The genetic disorder would be considered rare even in one parent, but according to the couple’s doctors, there is a “billion to one” chance of it occurring in both parents.
The fact that the mutation is present in the genes of both parents makes it almost certain that their offspring will be born without the ability to produce enough natural lubrication in their lungs, which causes the lungs to dry up and the infants to die from their inability to process oxygen in their lungs.
The surfactant deficiency disease is so rare that the couple’s doctors didn’t recognize it immediately when their first two children began to have trouble breathing shortly after birth.
The couple was thrilled when their first child, Keeynn Peterson Welch, was born seemingly healthy in March of 2008. Within minutes they realized something was wrong.
“Keeynn was carried full term, and was thought to be completely healthy until about four minutes after he was born,” explained Kjirstyn. “After he was born, his chest started sinking in because he was breathing so fast and hard.”
The doctors told the couple that the baby’s lungs weren’t developed and there was nothing to worry about.
“After a week at home the oxygen he was on wasn’t enough anymore so we had to return to the hospital with him,” said Kjirstyn.
The doctors at the hospital were baffled by the baby’s condition, said Kjirstyn. Nobody at the hospital had any idea what was wrong with him and they told the couple he needed time to heal, she said.
“After they couldn’t do anything for him anymore they had him life-flighted to Salt Lake Children’s Hospital, where we continued to just sit and wait for answers,” said Kjirstyn.
When the baby was two months old, numerous tests revealed the rare condition.
“They told us he had a rare genetic mutation on his ABCA3 gene that had caused him to have a lung disease called surfactant deficiency, a disease that is incurable and makes it so the lungs can’t stay lubricated, so they slowly just dry up,” explained Kjirstyn.
Little Keeynn died in his mother’s arms shortly after his diagnosis.
At this point, the doctors hadn’t tested the couple and they didn’t realize that they both carried the mutation, which causes the disease. So, intent on trying again, the couple became pregnant with their second child, never suspecting that the disease that they were told was so rare would occur again in their new baby.
Shortly after the birth of their second child, Kyla Kynn Welch, in February of 2009, they couple saw symptoms of the disease appear again.
“We waited in the NICU for about a week and a half before we got her genetic tests back,” said Kjirstyn. “Sadly, she was born with the same genetic mutation.”
Once the couple realized their second baby had the disease as well, they looked to larger hospitals for answers. The child was flown to Denver Children’s hospital, where the doctors tried steroid treatments to fix the problem. After this method failed, they were told the baby would need a lung transplant.
“For about a month, my husband and I waited for the hospitals to get the transport and transplant paperwork done,” said Kjirstyn.
The baby was now around two months old, and like their previous child who died, struggled for breath to survive.
“When Kyla was two months old we were flown to St. Louis Children’s Hospital, where we lived in a bedroom in the Ronald McDonald house.”
Intent on the survival of their child, Luke found a job in the area, while Kjirstyn carried for the child while they waiting for a pair of lungs to become available.
“We sat and waited for our pager to go off to tell us they had lungs for our baby,” said Kjirstyn. Sadly, the call never came and their baby died in June of 2009. She was only three months old.
When the couple was in Denver, they were tested for the genetic mutation and found out that they were both carriers.
“Sadly, every child we have has a one in four chance of having the same lung disease,” said Kjirstyn. “For me this is a nightmare because all I’ve ever wanted was to raise children.”
After much research the couple learned that they could greatly reduce those chances through in-vitro fertilization. During the process, eggs would be gathered from the potential mother and tested for the genetic mutation. Only eggs free from the mutation would be combined with the sperm from the father, reducing the chance of the disease occurring in the child to almost nil.
“I’d like to have a big family, but right now I’d be happy if we could just have one child,” said Kirstyn. “Just to have one to raise would be fine with me. I’d like to have a big family, but if some of them are adopted that’s okay with me, too.”
Kirstyn works as a certified nurses assistant and is very open to using her skills to raise a child who might have special medical needs.
“We’ve looked at some of the adoption websites and most of the ones who don’t get adopted are the sick ones,” she said. “My heart reaches out to those especially. So, we might end up adopting a child with those kinds of needs.”
Both in-vitro and adoption are expensive alternatives that the couple can’t afford at this time, with either method costing anywhere from $15,000 to $25,000 dollars.
“We are raising money, through work, through our website and many people have stepped forward to do fundraisers for us,” explained Kirstyn. The couple is not ready to give up on their dream to raise a family, she said.
So far, the couple has raised $1,245 through their website, which can be found at http://beta.indiegogo.com/Genetic-Mutation.
By Patti Carpenter